Canonical Allele Identifier: CA915945413

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 813397
• ClinVar RCV Id: RCV001004222 ; RCV001004806
• dbSNP Id: rs1584331188

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695953dup , CM000669.2:g.107695953dup	GRCh38
NC_000007.13:g.107336398dup , CM000669.1:g.107336398dup	GRCh37
NC_000007.12:g.107123634dup	NCBI36
NG_008489.1:g.40319dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1458dup MANE Select	ENSP00000494017.1:p.Ile487TyrfsTer?
ENST00000644846.1:c.169dup
ENST00000265715.7:c.1458dup	ENSP00000265715.3:p.Ile487TyrfsTer?
ENST00000460748.1:n.561dup
ENST00000477350.5:n.305dup
ENST00000480841.5:n.307dup
ENST00000497446.5:n.473dup
NM_000441.1:c.1458dup	NP_000432.1:p.Ile487TyrfsTer?
XM_005250425.1:c.1458dup	XP_005250482.1:p.Ile487TyrfsTer?
XM_005250425.2:c.1458dup	XP_005250482.1:p.Ile487TyrfsTer?
XM_017012318.1:c.1380dup	XP_016867807.1:p.Ile461TyrfsTer?
NM_000441.2:c.1458dup MANE Select	NP_000432.1:p.Ile487TyrfsTer?